Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information.

ABSTRACT: Through whole-exome/genome sequencing, human geneticists identify rare variants that segregate with disease phenotypes. To assess if a specific variant is pathogenic, one must query many databases to determine whether the gene of interest is linked to a genetic disease, whether the specific variant has been reported before, and what functional data is available in model organism databases that may provide clues about the gene's function in human. MARRVEL (Model organism Aggregated Resources for Rare Variant ExpLoration) is a one-stop data collection tool for human genes and variants and their orthologous genes in seven model organisms including in mouse, rat, zebrafish, fruit fly, nematode worm, fission yeast, and budding yeast. In this Protocol, we provide an overview of what MARRVEL can

SUBMITTER: Wang J 

PROVIDER: S-EPMC7401700 | biostudies-literature | 2019 Aug

REPOSITORIES: biostudies-literature